First-Trimester Screening for Birth Defects - Topic Overview

What is the first-trimester screening for birth defects?

Near the end of the first 3 months of pregnancy (first trimester), a woman can have two types of tests to show the chance that her baby has a birth defect. When the results are combined, these tests are known as the first-trimester screening. They also may be called the combined first-trimester screening or the combined screening.

These screening tests help your doctor find out the chance that
your baby has certain birth defects, such as
Down syndrome or
trisomy 18. These tests can't show for sure that your baby has a birth defect. You would need a diagnostic test, such as a chorionic villus sampling, to find out if there is a problem.

Did You Know?

Under the Affordable Care Act, many health insurance plans will cover prenatal services, including screening tests and breastfeeding support, at no cost to you. Learn more.

Nuchal translucency test. This test uses
ultrasound to measure the thickness of the area at the
back of the baby's neck. An increase in the thickness can be an early sign of
Down syndrome. The test is not available everywhere, because a
doctor must have special training to do it.

First-trimester blood tests. These tests measure
the amounts of two substances in your blood: beta human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein A (PAPP-A).
Beta-hCG is a hormone made by the
placenta. High levels may be related to certain
birth defects. PAPP-A is a protein in the blood. Low levels may be related
to certain birth defects.

First-trimester screening also may be done as part of an integrated screening test. This combines the results of the first-trimester tests with those of second-trimester screening (a blood test called the triple or quad screening). You would get the results after the second-trimester test is done.

How are the tests done?

For the nuchal translucency test, your doctor or an ultrasound technologist spreads a gel on your belly. Then he or she gently moves a handheld device called a transducer over your belly. Images of the baby are displayed on a monitor. The doctor can look for and measure the thickness at the back of the baby's neck.